topic 2 human genetic disorders Flashcards

0
Q

a genetic disease caused by a duplication (stutter) mutation; is a dominant disorder; a neurological disorder

A

huntington’s disease

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1
Q

A genetic disease caused by substitution mutation; is a dominant disorder; dwarfism (short stature)

A

achondroplasia

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2
Q

a genetic disease caused by a deletion mutation; is a recessive disorder; causes fluid build up in lungs

A

cystic fibrosis

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3
Q

a genetic disease caused by a substitution mutation; is a recessive disorder; causes irregularly shaper res blood cells

A

sick cell disease

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4
Q

a genetic disease caused by an inversion (the chromosome sequence is flipped around- a chromosomal mutation); is a recessive disorder; causes the blood to not be able to clot properly

A

hemophilia

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5
Q

a genetic disorder caused by many different types of mutations; is a recessive disorder; causes colors to not be viewed accurately

A

colorblindness

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6
Q

a genetic disorder caused by a chromosomal mutation in which part of chromosome 5 is deleted; children born with this generally die very young

A

cri du chat

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7
Q

a genetic disorder caused by a chromosomal mutation in which an extra chromosome 21 is inherited

A

down syndrome

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8
Q

a genetic disorder caused by a chromosomal mutation in which an extra x chromosome is inherited

A

kleinfelter syndrome

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9
Q

a genetic disorder caused by a chromosomal mutation in which an extra Y chromosome is inherited

A

jacob’s syndrome

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10
Q

a genetic disorder caused by a chromosomal mutation in which only 1 x chromosome is inherited

A

turner syndrome

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